GOPC Gene - Golgi Associated PDZ And Coiled-Coil Motif Containing
Comprehensive genomic and proteomic analysis of GOPC, a gene encoding a PDZ domain-containing protein involved in vesicle trafficking and cell polarity.
Gene Information Card
| Symbol | GOPC |
|---|---|
| Full Name | Golgi associated PDZ and coiled-coil motif containing |
| Gene Type | protein-coding |
| Chromosomal Location | 6q22.1 |
| NCBI Gene ID | 57120 ncbi.nlm.nih.gov/gene/57120 |
| Ensembl ID | ENSG00000112210 |
| UniProt ID | Q9HD26 |
| OMIM ID | 606845 |
| HGNC ID | 17643 |
| Aliases | CAL, FIG, PIST, dJ94G16.2 |
Description
GOPC (Golgi associated PDZ and coiled-coil motif containing) encodes a protein with a PDZ domain and coiled-coil regions. It localizes to the Golgi apparatus and is involved in vesicle trafficking, receptor recycling, and cell polarity. GOPC interacts with several transmembrane proteins, including CFTR, frizzled receptors, and cadherins, and plays a role in spermatogenesis and neuronal development.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Spermatogenic failure | Disruption of GOPC leads to abnormal acrosome formation and sperm head defects | OMIM #606845; mouse models show male infertility |
| Cancer (various) | GOPC fusions (e.g., GOPC-ROS1) drive oncogenic signaling in lung cancer and other tumors | COSMIC; PMID: 17699750 |
| Cystic fibrosis modifier | GOPC interacts with CFTR and may influence CFTR trafficking and stability | UniProt; PMID: 11514567 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 38.5 | High |
| Brain | 12.3 | Medium |
| Lung | 8.7 | Medium |
| Kidney | 6.2 | Low |
| Liver | 3.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 22.4 | Embryonic kidney cells |
| HeLa | 15.8 | Cervical cancer cells |
| A549 | 10.2 | Lung cancer cells |
| SH-SY5Y | 18.6 | Neuroblastoma cells |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | missense | <0.01% | Loss of start codon; likely loss of function |
| c.124C>T (p.Arg42Cys) | missense | <0.01% | Uncertain significance; reported in ClinVar |
| GOPC-ROS1 fusion | gene fusion | Rare in lung cancer | Oncogenic; constitutive kinase activation |
Mutation functional classification
Loss of Function (LOF)
Nonsense or frameshift mutations leading to truncated protein; associated with spermatogenic failure.
Gain of Function (GOF)
GOPC-ROS1 fusions result in constitutive activation of ROS1 kinase, driving oncogenesis.
Dominant Negative (DN)
Not well documented; potential dominant-negative effects from truncated PDZ domain.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Vesicle-mediated transport
• CFTR trafficking
• Wnt signaling (via Frizzled interaction)
• ROS1 signaling (in fusion context)
Protein Summary
The GOPC protein (also known as CAL, FIG, PIST) contains a PDZ domain and coiled-coil motifs. It localizes to the Golgi apparatus and functions as a scaffold for vesicle trafficking and receptor recycling. GOPC interacts with CFTR, frizzled receptors, and cadherins, influencing cell polarity and signaling. In cancer, GOPC-ROS1 fusions drive oncogenic kinase activity. In the testis, GOPC is essential for acrosome formation and sperm maturation.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| GOPC Knockout HEK293 Cell Line | EDJ-KQ13646 | Human | 57120 | Details Get a Quote |
| GOPC Knockout A-549 Cell Line | EDJ-KQ43326 | Human | 57120 | Details Get a Quote |
| GOPC Knockout HCT 116 Cell Line | EDJ-KQ43327 | Human | 57120 | Details Get a Quote |
| GOPC Knockout HeLa Cell Line | EDJ-KQ43328 | Human | 57120 | Details Get a Quote |
